title: In vitro gene amplification for prenatal diagnosis of congenital adrenal hyperplasia.
abstract: A simple, rapid, non-radioactive method for detecting homozygous deletions/conversions of the steroid 21-hydroxylase gene is described. In our experience this method will be useful for first trimester prenatal diagnosis of congenital adrenal hyperplasia in 17% of families of a child with the salt losing form. This test includes an internal control to monitor the success of amplification.
authors.affiliation: Department of Chemical Pathology, University College and Middlesex School of Medicine, London.
authors.forename: G
authors.initials: G
authors.lastname: Rumsby
authors.forename: J W
authors.initials: JW
authors.lastname: Honour
mesh_terms: D000312:Adrenal Hyperplasia, Congenital / Q000175:diagnosis* / Q000235:genetics; D001483:Base Sequence; D015139:Blotting, Southern; D015193:Chorionic Villi Sampling; D005260:Female; D006801:Humans; D066298:In Vitro Techniques; D008969:Molecular Sequence Data; D009154:Mutation / Q000235:genetics; D021141:Nucleic Acid Amplification Techniques; D011247:Pregnancy; D011261:Pregnancy Trimester, First; D011296:Prenatal Diagnosis; D013255:Steroid 21-Hydroxylase / Q000235:genetics
chemical_list: D013255:Steroid 21-Hydroxylase